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Items: 1 to 100 of 1044

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SETX
(V1759fs)
Deletion
(frameshift variant)
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
GLikely pathogenic
SETX
(N2311del)
Deletion
(inframe_deletion +1 more)
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
GUncertain significance
SETX
Duplication
Amyotrophic lateral sclerosis type 4
+1 more
GUncertain significance
SETX
(D310N)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 4
+1 more
GUncertain significance
SETX
Single nucleotide variant
(synonymous variant)
Amyotrophic lateral sclerosis type 4
+1 more
GBenign
SETX
(R1294H)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
SETX
(S910L)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 4
+1 more
GLikely benign
SETX
(H1951L)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 4
+1 more
GUncertain significance
SETX
Single nucleotide variant
(intron variant)
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
+1 more
GLikely benign
SETX
(L1365F)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
+1 more
GUncertain significance
SETX
(I614T)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
+1 more
GUncertain significance
SETX
(A1800T)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
+1 more
GBenign
SETX
Single nucleotide variant
(synonymous variant)
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
+1 more
GLikely benign
SETX
Single nucleotide variant
(intron variant)
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
+1 more
GLikely benign
SETX
(I1942V)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
+1 more
GUncertain significance
SETX
Single nucleotide variant
(synonymous variant)
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
+1 more
GLikely benign
SETX
Single nucleotide variant
(intron variant)
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
+1 more
GLikely benign
LOC126860782, SETX
Single nucleotide variant
(synonymous variant)
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
+1 more
GLikely benign
SETX
(D2364N)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
+1 more
GBenign
SETX
(R337S)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
+1 more
GUncertain significance
SETX
Single nucleotide variant
(synonymous variant)
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
+1 more
GLikely benign
SETX
(G1671S)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
+1 more
GBenign
SETX
(G666R)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
+1 more
GBenign
SETX
(E648del)
Deletion
(inframe_deletion)
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
+1 more
GUncertain significance
SETX
(P1331S)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
+1 more
GBenign
SETX
(E2614K +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
SETX
Single nucleotide variant
(synonymous variant)
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
+1 more
GLikely benign
SETX
Single nucleotide variant
(synonymous variant)
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
+1 more
GLikely benign
SETX
(N861S)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
+1 more
GBenign
SETX
Single nucleotide variant
(synonymous variant)
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
+1 more
GLikely benign
SETX
(V336I)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
+1 more
GUncertain significance
SETX
Single nucleotide variant
(synonymous variant)
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
+1 more
GLikely benign
SETX
(V1649F)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
+1 more
GUncertain significance
SETX
Single nucleotide variant
(intron variant)
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
+1 more
GLikely benign
SETX
Single nucleotide variant
(synonymous variant)
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
+1 more
GLikely benign
SETX
(S2142fs)
Duplication
(frameshift variant)
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
+1 more
GPathogenic
SETX
(I1631fs)
Duplication
(frameshift variant)
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
+1 more
GPathogenic
SETX
(V1658I)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
+1 more
GUncertain significance
SETX
(P9S)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
+1 more
GUncertain significance
SETX
(T1142A)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
+1 more
GBenign
SETX
Deletion
(intron variant)
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
+1 more
GLikely benign
SETX
(M650V)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
SETX
(N1516S)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
+1 more
GUncertain significance
SETX
(D667N)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
+1 more
GUncertain significance
SETX
Single nucleotide variant
(synonymous variant)
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
+1 more
GBenign
LOC126860782, SETX
Single nucleotide variant
(synonymous variant)
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
+1 more
GBenign
SETX
(V1529I)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
+1 more
GLikely benign
SETX
(T2552I +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
SETX
Single nucleotide variant
(synonymous variant)
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
+1 more
GBenign
SETX
(Y1297F)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GLikely benign
SETX
Single nucleotide variant
(splice donor variant)
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
+1 more
GLikely pathogenic
SETX
Single nucleotide variant
(synonymous variant)
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
+1 more
GLikely benign
SETX
(H2076P)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
+1 more
GUncertain significance
SETX
(T1207S)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
+1 more
GUncertain significance
SETX
(G1720A)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
+1 more
GUncertain significance
SETX
(T2255I)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
+1 more
GUncertain significance
SETX
(Q2108P)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
+1 more
GUncertain significance
SETX
Single nucleotide variant
(synonymous variant)
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
+1 more
GLikely benign
SETX
Single nucleotide variant
(synonymous variant)
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
+1 more
GLikely benign
SETX
Single nucleotide variant
(synonymous variant)
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
+1 more
GLikely benign
SETX
(Q2516H +1 more)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
+1 more
GUncertain significance
SETX
Single nucleotide variant
(synonymous variant)
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
+1 more
GLikely benign
SETX
(R2529G +1 more)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
+1 more
GUncertain significance
SETX
Single nucleotide variant
(synonymous variant)
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
+1 more
GBenign
SETX
(Q1382R)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
+1 more
GUncertain significance
SETX
Deletion
(inframe_deletion +1 more)
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
+2 more
GUncertain significance
SETX
(M2574K +1 more)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
+1 more
GUncertain significance
SETX
(G2575fs +1 more)
Deletion
(frameshift variant)
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
+1 more
GUncertain significance
SETX
(Q1072R)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 4
+1 more
GUncertain significance
SETX
Single nucleotide variant
(synonymous variant)
Amyotrophic lateral sclerosis type 4
+1 more
GLikely benign
SETX
Single nucleotide variant
(intron variant)
Amyotrophic lateral sclerosis type 4
+1 more
GUncertain significance
SETX
Single nucleotide variant
(intron variant)
not provided
+2 more
GUncertain significance
SETX
(S27F)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 4
+1 more
GLikely benign
SETX
Single nucleotide variant
(synonymous variant)
Amyotrophic lateral sclerosis type 4
+1 more
GLikely benign
SETX
(E881K)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 4
+1 more
GUncertain significance
SETX
Single nucleotide variant
(synonymous variant)
Amyotrophic lateral sclerosis type 4
+1 more
GLikely benign
SETX
(P1965S)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 4
+1 more
GUncertain significance
SETX
(R111*)
Single nucleotide variant
(nonsense)
Amyotrophic lateral sclerosis type 4
+1 more
GPathogenic
SETX
Deletion
(intron variant)
Amyotrophic lateral sclerosis type 4
+1 more
GLikely benign
SETX
Single nucleotide variant
(synonymous variant)
Amyotrophic lateral sclerosis type 4
+1 more
GLikely benign
SETX
(I2476L +1 more)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 4
+1 more
GUncertain significance
SETX
Single nucleotide variant
(synonymous variant)
Amyotrophic lateral sclerosis type 4
+1 more
GLikely benign
SETX
(R2674fs +1 more)
Microsatellite
(frameshift variant)
Amyotrophic lateral sclerosis type 4
+1 more
GUncertain significance
SETX
(E1482G)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
+1 more
GUncertain significance
SETX
(D806N)
Single nucleotide variant
(missense variant)
SETX-related condition
+2 more
GConflicting classifications of pathogenicity
SETX
Single nucleotide variant
(synonymous variant)
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
+1 more
GLikely benign
SETX
(N1668S)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
+1 more
GBenign
SETX
Deletion
(intron variant)
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
+1 more
GLikely benign
SETX
Single nucleotide variant
(intron variant)
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
+1 more
GLikely benign
SETX
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GLikely benign
SETX
(W1788R)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
+1 more
GUncertain significance
SETX
Single nucleotide variant
(intron variant)
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
+1 more
GLikely benign
SETX
Single nucleotide variant
(intron variant)
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
+1 more
GLikely benign
SETX
Single nucleotide variant
(synonymous variant)
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
+1 more
GLikely benign
SETX
Single nucleotide variant
(intron variant)
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
+1 more
GUncertain significance
SETX
Duplication
(intron variant)
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
+1 more
GLikely benign
SETX
(E1139D)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
+1 more
GLikely benign
SETX
Single nucleotide variant
(intron variant)
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
+1 more
GLikely benign
SETX
(I2547V +1 more)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
+1 more
GBenign
SETX
(T515I)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 4
+1 more
GUncertain significance
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